B4622 - Identification of rare genetic variants associated with lung function using whole-exome and whole-genome sequencing data - 20/05/2024
B number:
B4622
Principal applicant name:
Marisa Canadas Garre | University of Bristol (United Kingdom)
Co-applicants:
Professor Nicholas Timpson, Dr Laura Corbin, Dr Laurie Fabian
Title of project:
Identification of rare genetic variants associated with lung function using whole-exome and whole-genome sequencing data
Proposal summary:
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. Recently, over a thousand variants in over 500 genes were associated with lung function. Those variants were involved in different cell functions, providing information that brings us closer to understanding the mechanisms underlying lung function and COPD.
In this study, we will investigate a more comprehensive number of variants in genes, with a focus on those that are not that frequent in the population (frequency under 1%), to help identifying variants responsible for lung function impairment.
Impact of research:
Greater understanding of the aetiology of COPD and especially lung function. This study will help identify novel genetic variants involved in lung function and may reveal not only causative markers but also potential targets for therapy and drug development.
Date proposal received:
Monday, 20 May, 2024
Date proposal approved:
Monday, 20 May, 2024
Keywords:
Genetic epidemiology (including association studies and mendelian randomisation), • Lung Function
• Chronic Obstructive Pulmonary Disease (COPD)
, Computer simulations/modelling/algorithms, DNA sequencing, Gene mapping, GWAS, Microarrays, Statistical methods, Biological samples -e.g. blood, cell lines, saliva, etc., Biomarkers - e.g. cotinine, fatty acids, haemoglobin, etc., Whole genome sequencing, BMI, Fathers, Genetic epidemiology, Genetics, Genomics, Genome wide association study, Sex differences, Statistical methods